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Figure 1: Chromatogram showing the nucleotides surrounding the site of the two mutations found in the patient. Panels A and C show the wild type situation while panel B shows the frameshift caused by the single base pair deletion, c.650delT (p.Phe217Serfs*33) in exon 7. Panel D shows the novel heterozygous missense mutation, c.869T>C (p.Ile290Thr) in exon 9. Arrows indicate the exact position of the mutations

Figure 1: Chromatogram showing the nucleotides surrounding the site of the two mutations found in the patient. Panels A and C show the wild type situation while panel B shows the frameshift caused by the single base pair deletion, c.650delT (p.Phe217Serfs*33) in exon 7. Panel D shows the novel heterozygous missense mutation, c.869T>C (p.Ile290Thr) in exon 9. Arrows indicate the exact position of the mutations